Journal article
Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects
Journal of child neurology, Vol.7(1), pp.29-34
01/1992
DOI: 10.1177/088307389200700105
PMID: 1552148
Abstract
Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism. ( J Child Neurol 1992;7:29-34).
Details
- Title: Subtitle
- Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects
- Creators
- Hatem El-Shanti - Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IAWilliam E Bell - Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IA, Department of Neurology University of Iowa College of Medicine, Iowa City, IAMary H Waziri - Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IA
- Resource Type
- Journal article
- Publication Details
- Journal of child neurology, Vol.7(1), pp.29-34
- DOI
- 10.1177/088307389200700105
- PMID
- 1552148
- ISSN
- 0883-0738
- eISSN
- 1708-8283
- Language
- English
- Date published
- 01/1992
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093357402771
Metrics
15 Record Views